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Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M. Pavlidou E, et al. Among authors: cutrupi mc. Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11. Eur J Paediatr Neurol. 2016. PMID: 26805434
Autoimmune liver disease in Noonan Syndrome.
Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, Ferraù V, Gallizzi R, Briuglia S. Loddo I, et al. Among authors: cutrupi mc. Eur J Med Genet. 2015 Mar;58(3):188-90. doi: 10.1016/j.ejmg.2014.12.013. Epub 2015 Jan 13. Eur J Med Genet. 2015. PMID: 25595571
Minor pulmonary malformations in a child.
Manti S, Parisi GF, Tardino L, Cutrupi M, Salpietro C, Cuppari C, Sacco O, Leonardi S. Manti S, et al. Breathe (Sheff). 2018 Jun;14(2):e43-e47. doi: 10.1183/20734735.014618. Breathe (Sheff). 2018. PMID: 30131834 Free PMC article.
Kabuki syndrome and cancer in two patients.
Tumino M, Licciardello M, Sorge G, Cutrupi MC, Di Benedetto F, Amoroso L, Catania R, Pennisi M, D'Amico S, Di Cataldo A. Tumino M, et al. Among authors: cutrupi mc. Am J Med Genet A. 2010 Jun;152A(6):1536-9. doi: 10.1002/ajmg.a.33405. Am J Med Genet A. 2010. PMID: 20503331
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Among authors: cutrupi mc. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H. Salpietro V, et al. Among authors: cutrupi mc. Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27. Hum Mutat. 2018. PMID: 29127725 Free PMC article.
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